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Analytical Biochemistry|August 26, 2016
Construction of a compatible Gateway-based co-expression vector set for expressing multiprotein complexes in E. coliLoubna Salim, Claire Feger, Didier BussoData in Brief|November 30, 2016
Data set for describing the elaboration of a compatible Gateway-based co-expression vector set and supporting its validationLoubna Salim, Claire Feger, Didier BussoAmerican Journal of Medical Genetics. Part A|March 23, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathyLaura Mary, Elsa Nourisson, Claire Feger, et al.Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.Pageof 2